Details of Disease

General Information of Disease (ID: DIS9ZMRP)

• Disease Name: Hereditary spastic paraplegia 73
• Synonyms: spastic paraplegia 73, autosomal dominant; SPG73; CPT1C autosomal dominant pure spastic paraplegia; autosomal dominant pure spastic paraplegia caused by mutation in CPT1C; autosomal dominant spastic paraplegia type 73; autosomal dominant spastic paraplegia 73; hereditary spastic paraplegia type 73
• Definition: Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.
• Disease Hierarchy:
  DIS8X71E: Pure hereditary spastic paraplegia
  DIS9ZMRP: Hereditary spastic paraplegia 73
• Disease Identifiers:
  MONDO ID: MONDO_0014568
  UMLS CUI: C5568981
  OMIM ID: 616282
  MedGen ID: 1800404
  Orphanet ID: 444099
  SNOMED CT ID: 1187468005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CPT1C	OT8F1MBF	Strong	Autosomal dominant	[1]

References

• [1] Carnitine palmitoyltransferase 1C deficiency causes motor impairment and hypoactivity. Behav Brain Res. 2013 Nov 1;256:291-7. doi: 10.1016/j.bbr.2013.08.004. Epub 2013 Aug 21.